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Article

Effects of single-nucleotide polymorphisms in the human holocarboxylase synthetase gene on enzyme catalysis.

European journal of human genetics : EJHG - 1 Apr 2012

Esaki Shingo, Malkaram Sridhar A, Zempleni Janos

Abstract excerpt

Holocarboxylase synthetase (HLCS) is a biotin protein ligase, which has a pivotal role in biotin-dependent metabolic pathways and epigenetic phenomena in humans. Knockdown of HLCS produces phenotypes such as heat susceptibility and decreased life span in Drosophila melanogaster, whereas knockout of HLCS appears to be embryonic lethal. HLCS comprises 726 amino acids in four domains. More than 2500...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22027809
DOI: 10.1038/ejhg.2011.198
PMCID: PMC3306849

Genes

HLCS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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